All issues > Volume 26(3); 1983

Case Report

J Korean Pediatr Soc. 1983;26(3):284-288. Published online March 31, 1983.

A Case Report Kostmann Syndrome.

Han Wook Yoo¹, Son Moon Shin¹, Hyo Seop Ahn¹, Yong Choi¹, Chang Yee Hong¹

¹Department of Pediatrics, College of Medicine、Seoul National University, Seoul, Korea

Abstract

Kostmann syndrome (Infantile genetic agranulocytosis), a disease characterized by recurrent infections leading to death in infancy, shows an agranulocytosis with variable monocytosis, eosinophilia in the peripheral blood, accompanied by the maturation arrest of the myelocytic series at the promyelocyte-myelocyte level. A 2 years 3 month old female patient with Kostmann syndrome is reported, who has suffered from recurrent infections since 1 month of age. During 25 months, follow up period, she showed persistent neutropenia, monocytosis and eosinophilia in peripheral blood. Maturation arrest in early myelocytic series was remarkable in bone marrow. Neutropenia was not res- ponsive to epinephrine stimulation test. Anti-granulocyte antibody was not detected. Immunoglobulin quantitation revealed no abnormality. Peripheral neutrophil counts of parents were normal. Family history was not remarkable.

Keywords :Kostmann syndrome (Infantile Genetic Agranulocytosis).